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NC_000005.10:g.(?_140676634)_(140678035_?)del
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NC_000005.10:g.(?_140679002)_(140683219_?)dup
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NC_000005.9:g.140059894_140070834del
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NM_002109.6(HARS1):c.1000G>A (p.Val334Met)
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rs1554106875 |
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NM_002109.6(HARS1):c.1009G>A (p.Glu337Lys)
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NM_002109.6(HARS1):c.1009G>T (p.Glu337Ter)
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rs1370029240 |
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NM_002109.6(HARS1):c.1028C>T (p.Thr343Ile)
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rs1562005331 |
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NM_002109.6(HARS1):c.103G>A (p.Val35Met)
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rs144588417 |
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NM_002109.6(HARS1):c.1053C>G (p.Pro351=)
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rs1435212159 |
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NM_002109.6(HARS1):c.1067G>A (p.Ser356Asn)
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rs144322728 |
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NM_002109.6(HARS1):c.1084C>T (p.Arg362Cys)
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NM_002109.6(HARS1):c.1110C>T (p.Phe370=)
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rs761267344 |
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NM_002109.6(HARS1):c.1111G>A (p.Asp371Asn)
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rs753104645 |
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NM_002109.6(HARS1):c.1123C>T (p.Arg375Cys)
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rs774682373 |
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NM_002109.6(HARS1):c.1124G>A (p.Arg375His)
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NM_002109.6(HARS1):c.1127A>G (p.Lys376Arg)
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rs139447495 |
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NM_002109.6(HARS1):c.1133C>T (p.Pro378Leu)
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rs377410852 |
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NM_002109.6(HARS1):c.1151T>A (p.Ile384Asn)
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NM_002109.6(HARS1):c.1160A>G (p.Glu387Gly)
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NM_002109.6(HARS1):c.1194+4G>A
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rs370189312 |
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NM_002109.6(HARS1):c.1196C>T (p.Ala399Val)
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rs34732372 |
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NM_002109.6(HARS1):c.1213C>A (p.Arg405=)
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NM_002109.6(HARS1):c.1217C>A (p.Thr406Asn)
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rs369070016 |
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NM_002109.6(HARS1):c.1221G>A (p.Thr407=)
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rs150274370 |
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NM_002109.6(HARS1):c.1228C>T (p.Gln410Ter)
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NM_002109.6(HARS1):c.1252_1254AAG[1] (p.Lys419del)
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NM_002109.6(HARS1):c.1255_1256delinsCT (p.Lys419Leu)
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NM_002109.6(HARS1):c.1261C>G (p.Leu421Val)
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rs34790864 |
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NM_002109.6(HARS1):c.1311+4T>C
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NM_002109.6(HARS1):c.1312-8C>T
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rs772505507 |
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NM_002109.6(HARS1):c.1329_1331GAA[1] (p.Lys444del)
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NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser)
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rs387906639 |
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NM_002109.6(HARS1):c.1369G>A (p.Glu457Lys)
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NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr)
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rs891844407 |
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NM_002109.6(HARS1):c.1393A>G (p.Ile465Val)
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NM_002109.6(HARS1):c.1402G>A (p.Glu468Lys)
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rs199615869 |
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NM_002109.6(HARS1):c.1420G>A (p.Gly474Arg)
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NM_002109.6(HARS1):c.142G>A (p.Asp48Asn)
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NM_002109.6(HARS1):c.1433T>G (p.Leu478Arg)
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rs1024985302 |
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NM_002109.6(HARS1):c.1439C>T (p.Ser480Leu)
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NM_002109.6(HARS1):c.1445C>T (p.Thr482Met)
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rs147372931 |
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NM_002109.6(HARS1):c.1461G>A (p.Val487=)
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rs931036155 |
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NM_002109.6(HARS1):c.1468C>T (p.Arg490Ter)
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NM_002109.6(HARS1):c.1469G>A (p.Arg490Gln)
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NM_002109.6(HARS1):c.14C>A (p.Ala5Glu)
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rs78741041 |
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NM_002109.6(HARS1):c.1526G>T (p.Cys509Phe)
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NM_002109.6(HARS1):c.155A>C (p.Gln52Pro)
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NM_002109.6(HARS1):c.159A>G (p.Lys53=)
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NM_002109.6(HARS1):c.199C>T (p.Pro67Ser)
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NM_002109.6(HARS1):c.203G>A (p.Arg68Gln)
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rs753788498 |
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NM_002109.6(HARS1):c.218G>A (p.Arg73His)
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rs767325912 |
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NM_002109.6(HARS1):c.220G>A (p.Glu74Lys)
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rs774017621 |
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NM_002109.6(HARS1):c.234C>T (p.Asp78=)
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rs142994969 |
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NM_002109.6(HARS1):c.244C>T (p.Arg82Cys)
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rs769340873 |
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NM_002109.6(HARS1):c.296T>G (p.Leu99Arg)
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NM_002109.6(HARS1):c.364G>A (p.Gly122Arg)
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NM_002109.6(HARS1):c.382C>T (p.Arg128Cys)
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rs138582560 |
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NM_002109.6(HARS1):c.39T>G (p.Leu13=)
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NM_002109.6(HARS1):c.407C>T (p.Ala136Val)
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NM_002109.6(HARS1):c.409C>T (p.Arg137Trp)
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NM_002109.6(HARS1):c.40C>A (p.Gln14Lys)
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NM_002109.6(HARS1):c.410G>A (p.Arg137Gln)
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rs191391414 |
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NM_002109.6(HARS1):c.457G>T (p.Ala153Ser)
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rs746887565 |
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NM_002109.6(HARS1):c.465A>G (p.Val155=)
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rs1202503765 |
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NM_002109.6(HARS1):c.527T>A (p.Phe176Tyr)
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rs745780898 |
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NM_002109.6(HARS1):c.52G>A (p.Val18Met)
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rs774632798 |
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NM_002109.6(HARS1):c.545T>G (p.Phe182Cys)
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NM_002109.6(HARS1):c.612A>G (p.Ile204Met)
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rs1562008815 |
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NM_002109.6(HARS1):c.614G>A (p.Gly205Asp)
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rs147288996 |
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NM_002109.6(HARS1):c.61C>T (p.Leu21Phe)
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NM_002109.6(HARS1):c.622C>T (p.Leu208=)
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NM_002109.6(HARS1):c.62T>G (p.Leu21Arg)
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NM_002109.6(HARS1):c.639T>G (p.Asp213Glu)
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NM_002109.6(HARS1):c.655G>A (p.Gly219Arg)
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NM_002109.6(HARS1):c.677T>A (p.Val226Asp)
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NM_002109.6(HARS1):c.679T>G (p.Ser227Ala)
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rs768076848 |
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NM_002109.6(HARS1):c.694C>T (p.Arg232Cys)
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rs186526524 |
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NM_002109.6(HARS1):c.695G>A (p.Arg232His)
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NM_002109.6(HARS1):c.729+3A>G
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rs938453967 |
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NM_002109.6(HARS1):c.72G>A (p.Gln24=)
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rs148516171 |
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NM_002109.6(HARS1):c.782C>G (p.Pro261Arg)
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rs1319398620 |
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NM_002109.6(HARS1):c.797G>A (p.Arg266His)
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rs765223763 |
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NM_002109.6(HARS1):c.797G>T (p.Arg266Leu)
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NM_002109.6(HARS1):c.811G>A (p.Val271Ile)
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NM_002109.6(HARS1):c.88C>A (p.Leu30Met)
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rs1247070065 |
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NM_002109.6(HARS1):c.90+1G>C
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rs1554109203 |
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NM_002109.6(HARS1):c.903C>T (p.Asp301=)
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NM_002109.6(HARS1):c.911_922del (p.Leu304_Glu307del)
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rs794727969 |